Article
Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.
Annals of neurology - 1 Aug 2010
Osaka Hitoshi, Hamanoue Haruka, Yamamoto Ryoko, Nezu Atsuo, Sasaki Megumi, Saitsu Hirotomo, Kurosawa Kenji, Shimbo Hiroko, Matsumoto Naomichi, Inoue Ken
Abstract excerpt
Mutations in the gap junction protein gamma-2 gene, GJC2, cause a central hypomyelinating disorder; Pelizaeus-Merzbacher-like disease (PMLD; MIM311601). Using a homozygosity mapping and positional candidate gene approach, we identified a homozygous mutation (c.-167A>G) within the GJC2 promoter at a potent SOX10 binding site in a patient with mild PMLD. Functionally, this mutation completely abolished the SOX10...
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